Primary congenital glaucoma (PCG)

General description

Glaucoma is a leading cause of blindness due to characteristic damage to the retinal ganglion cells and optic nerve. Elevated intraocular pressure, globe enlargement and elongated ciliary processes were consistently observed in all affected cats by 8 weeks of age.

Breeds

Siamese

Order details
Test number8395
AbbreviationPCG
Sample material0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT)
Test duration7-14 working days
Test specifications
Symptom complexophthalmic
Inheritanceautosomal recessive
Age of onsetfrom birth
Causalitycausally
GeneLTBP2
MutationINS
LiteratureOMIA:002017-9685
Detailed description

Glaucoma is a leading cause of blindness due to characteristic damage to the retinal ganglion cells and optic nerve. In domestic cats a mutation in LTBP2 causes primary congenital glaucoma (PCG). Elevated intraocular pressure, globe enlargement and elongated ciliary processes were consistently observed in all affected cats by 8 weeks of age. Varying degrees of optic nerve damage resulted by 6 months of age.